WGS500

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WGS500 is a collaborative project between the Wellcome Trust Centre for Human Genetics, the BRC Genomic Medicine Theme, and the technology company Illumina with the aim of evaluating the clinical utility of whole genome sequencing across a number of human diseases. Proposals were invited from clinicians for cases where standard genetic tests had proved negative or where no test was available. The genomes of five hundred patients and family members were sequenced spanning a range of diseases including Mendelian disorders, severe and early onset immunological conditions, and cancer, with the hope of identifying variants in novel genes or pathways to inform diagnosis, prognosis, and reproductive risk, or influence treatment selection. By mid-2013, this project had resulted in the conclusive identification of several new causative genes, with many more in validation, leading to the improvement of diagnostic genetic tests for inherited diseases in the NHS, and clearly demonstrating the value of this approach.